Phylogenetic Analysis of Clinically Relevant Fusarium Species in Iran

Mycopathologia - Fungi of the genus Fusarium are well known as major plant pathogens but also cause a broad spectrum of human infections. Sixty-three clinical isolates, collected during...     

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. Identification of genetic susceptibility loci for SHFLD has been unsuccessful because of its rare incidence, variable phenotypic expression and associated anomalies, and uncertain inheritance pattern. SHFLD is usually inherited as an autosomal dominant trait with reduced penetrance, although recessive inheritance has also been postulated. We conducted a genomewide linkage analysis, using a 10K SNP array in a large consanguineous family (UR078) from the United Arab Emirates (UAE) who had disease transmission consistent with an autosomal dominant inheritance pattern. The study identified two novel SHFLD susceptibility loci at 1q42.2-q43 (nonparametric linkage [NPL] 9.8, P=.000065) and 6q14.1 (NPL 7.12, P=.000897). These results were also supported by multipoint parametric linkage analysis. Maximum multipoint LOD scores of 3.20 and 3.78 were detected for genomic locations 1q42.2-43 and 6q14.1, respectively, with the use of an autosomal dominant mode of inheritance with reduced penetrance. Haplotype analysis with informative crossovers enabled mapping of the SHFLD loci to a region of approximately 18.38 cM (8.4 Mb) between single-nucleotide polymorphisms rs1124110 and rs535043 on 1q42.2-q43 and to a region of approximately 1.96 cM (4.1 Mb) between rs623155 and rs1547251 on 6q14.1. The study identified two novel loci for the SHFLD phenotype in this UAE family.     

Eye lens and thyroid gland radiation exposure for patients undergoing brain computed tomography examination

This study aims to estimate the effective radiation dose and organ dose from head CT procedures. It was conducted in three main private hospitals in Khartoum State-Sudan, using Toshiba machines with 64 slices. The total number of patients included in this study was 142 patients (82 males and 60 females). The effective dose and organ dose were calculated by CT Expo software. The effective dose slightly varied among patients according to gender and age. The effective dose for female patients (5.99 mSv) was higher than that for male patients (5.84 mSv), and the pediatric dose (5.46 mSv) was lower than the adults’ dose (5.94 mSv).The dose for eye lens was found lower for male patients (89.117 mSv) than the dose for female patients (94.62) mSv). According to patients’ age: the dose received by the lens of the eye was much lower in pediatric (79.93 mSv) than the adults (92.41 mSv). The dose for thyroid in female patients (33.52 mSv) was higher than the male patients (28 mSv). The pediatric dose (28.34 mSv) was lower than the adults’ dose (30.64 mSv).Departmental imaging protocol and lack of training among hospital staff are expected to be responsible for these variations. Therefore, this study recommends that the CT technologists be trained on suitable strategies to achieve dose optimization. Moreover, patients’ doses must be monitored regularly.     

Bottom-up effect of different host plants on Plutella xylostella (Lepidoptera: Plutellidae): a life-table study on canola

The effects of 10 commercial canola, Brassica napus L., cultivars widely grown in Iran--'SLM(046),' 'Opera,' 'Okapi,' 'RGS(003),' 'Modena,' 'Sarigol,' 'Zarfam,' 'Licord,' 'Hayula(420),' and 'Talaye'--on the demographic parameters of diamondback moth, Plutella xylostella L. (Lepidoptera-Plutellidae), were determined. The experiments were conducted in a growth chamber at 25 +/- 1 degrees C, 65 +/- 2% RH, and a photoperiod of 16:8 (L:D) h. The comparison of intrinsic rate of natural increase (r(m)), net reproductive rate (R0), and the survival rate of adult stage of P. xylostella on 10 canola cultivars suggested that this pest performed best on SLM(046). The r(m) value of P. xylostella ranged between 0.241 on RGS(003) and 0.304 on SLM(046). The R0, finite rate of increase (lambda), mean generation time (T), and doubling time (DT) values of P. xylostella on SLM(046) were 52, 1.35, 13.4, and 2.35 and on RGS(003) were 31, 1.27, 14.4, and 2.94, respectively. The Weibull model adequately described the shape of the survivorship curve of adult P. xylostella from life-table data. A significant fit was obtained with the Weibull model for P. xylostella in all experimental canola cultivars. As a result, SLM(046), Opera, and Hayula(420) were the most suitable hosts and had least negative impact on life-history statistics of the pest.     

Exome sequencing discloses <Emphasis Type="Italic">KALRN</Emphasis> homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Background

The recent availability of whole-exome sequencing has opened new possibilities for the evaluation of individuals with genetically undiagnosed intellectual disability.

Results

We report two affected siblings, offspring of first-cousin parents, with intellectual disability, hypotonia, short stature, growth hormone deficiency, and delayed bone age. All members of the nuclear family were genotyped, and exome sequencing was performed in one of the affected individuals. We used an in-house algorithm (CATCH v1.1) that combines homozygosity mapping with exome sequencing results and provides a list of candidate variants. One identified novel homozygous missense variant in KALRN (NM_003947.4:c.3644C>A: p.(Thr1215Lys)) was predicted to be pathogenic by all pathogenicity prediction software used (SIFT, PolyPhen, Mutation Taster). KALRN encodes the protein kalirin, which is a GTP-exchange factor protein with a reported role in cytoskeletal remodeling and dendritic spine formation in neurons. It is known that mice with ablation of Kalrn exhibit age-dependent functional deficits and behavioral phenotypes.

Conclusion

Exome sequencing provided initial evidence linking KALRN to monogenic intellectual disability in man, and we propose that KALRN is the causative gene for the autosomal recessive phenotype in this family.

     

Morphological and Structural Studies of ZnO Nanotube Films Using Thermal Evaporation Technique

Simple thermal evaporation technique has been used to prepare Pb-doped ZnO nanotube films on Si (100) substrate. X-ray photoelectron spectroscopy (XPS) and energy-dispersive X-ray spectroscopy (EDX) characterization have been employed to investigate the element’s contents, which indicates the presence of stoichiometry ZnO nanotube film. The XRD pattern has shown the wurtzite phase of ZnO and polycrystalline structure. Thickness and morphology of the films were explored from the cross sectional of the films and the surface using scanning electron microscopy (SEM) images. SEM images have confirmed the ZnO nanotubes and modifications of the morphology when adding Pb; the recorded images have proved that the diameter of the nanotubes is about 50 nm. However, AFM and SEM images have shown dense structure (without nanotubes) for non-doped ZnO film (Pb = 0 wt.%).

     

A new species of Polydrusus (Polydrusus) Germar (Coleoptera:Curculionidae) from the Kurdistan region of Iraq

Polydrusus (s. str.) akreanus sp. n. is a new record of Curculionidae found in Iraqi Kurdistan. The new species is described, illustrated and compared with Polydrusus (s. str.) kadleci Borovec & Germann, 2013 known from Turkey and Iran, which is morphologically similar to the new species.

http://www.zoobank.org/urn:lsid:zoobank.org:pub:9FDC3C5B-6854-4DEF-BDF6-EE6809F82DEE     

Substance P analogues function as bombesin receptor antagonists and inhibit small cell lung cancer clonal growth

Human small cell lung cancer (SCLC) produces and secretes BN/GRP (bombesin/gastrin releasing peptide). Because BN stimulates the growth of SCLC cells and these cells have receptors for BN-like peptides, it is important to define agents which disrupt this self-promoting autocrine growth cycle. Here, substance P analogues were evaluated as BN receptor antagonists using SCLC cell lines. (D-Arg¹, D-Pro², D-Trp^7,9, Leu¹¹) substance P [(APTTL)SP] was one of the more potent analogues tested in inhibiting BN-like peptide receptor binding with an IC₅₀ value of 1 μM. Micromolar concentrations of (APTTL)SP antagonized BN receptor mediated elevation of cytosolic Ca²⁺ levels and decreased the colony formation in soft agarose. These data suggest that SP analogues function as SCLC BN receptor antagonists and may be useful in disrupting the autocrine growth function of BN-like peptides.